{{Rsnum
|rsid=4895441
|Chromosome=6
|position=135105435
|Orientation=plus
|GMAF=0.2291
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 59.3 | 35.4 | 5.3
| HCB | 51.1 | 38.0 | 10.9
| JPT | 40.7 | 44.2 | 15.0
| YRI | 89.8 | 9.5 | 0.7
| ASW | 71.9 | 26.3 | 1.8
| CHB | 51.1 | 38.0 | 10.9
| CHD | 45.0 | 43.1 | 11.9
| GIH | 73.3 | 23.8 | 3.0
| LWK | 90.9 | 9.1 | 0.0
| MEX | 58.6 | 34.5 | 6.9
| MKK | 87.2 | 11.5 | 1.3
| TSI | 52.9 | 42.2 | 4.9
| HapMapRevision=28
}}{{omim
|desc=FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2
|id=142470
|rsnum=4895441
}}

{{omim
|desc=SICKLE CELL ANEMIA
|id=603903
|rsnum=4895441
}}

{{PMID Auto GWAS
|PMID=19862010
|Trait=Mean corpuscular volume
|Title=Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
|RiskAllele=G
|Pval=7E-86
|OR=0.01
|ORtxt=[0.007-0.009] fl decrease
|OA=1
}}

{{PMID Auto GWAS
|PMID=20139978
|Trait=Hematological and biochemical traits
|Title=Genome-wide association study of hematological and biochemical traits in a Japanese population
|RiskAllele=G
|Pval=2E-9
|OR=0.25
|ORtxt=[NR] % variance
}}
{{PMID Auto
|PMID=20472475
|Title=The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients
}}

{{PMID|17592125|OA=1
}} Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.

{{PMID|18245381|OA=1
}} Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.

{{PMID|18667698|OA=1
}} DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.

{{PMID|18695233|OA=1
}} Genetic complexity in sickle cell disease.

{{PMID|19148297|OA=1
}} Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients.

{{PMID|20401335|OA=1
}} Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4895441
|overall_frequency_n=32
|overall_frequency_d=128
|overall_frequency=0.25
|n_genomes=23
|n_genomes_annotated=0
|n_haplomes=27
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto GWAS
  |PMID=23263863
  |Trait=Mean corpuscular hemoglobin concentration
  |Title=GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
  |RiskAllele=A
  |Pval=3E-6
  |OR=.09
  |ORtxt=[0.054-0.132] unit decrease
  |OA=1
}}

{{PMID Auto GWAS
  |PMID=23935956
  |Trait=Red blood cell traits
  |Title=Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.
  |RiskAllele=G
  |Pval=3E-6
  |OR=.01
  |ORtxt=[0.0051-0.0125] unit increase
  |OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}